Congestive heart failure, and Skin rash
Diseases related with Congestive heart failure and Skin rash
In the following list you will find some of the most common rare diseases related to Congestive heart failure and Skin rash that can help you solving undiagnosed cases.
Top matches:
Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.
NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome
Related symptoms:
- Muscle weakness
- Hepatomegaly
- Fever
- Skeletal muscle atrophy
- Respiratory insufficiency
SOURCES:
ORPHANET
MENDELIAN
More info about NAKAJO-NISHIMURA SYNDROME
Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.
KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome
Related symptoms:
- Sensorineural hearing impairment
- Ptosis
- Fever
- Fatigue
- Edema
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about KAWASAKI DISEASE
Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.
PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome
Related symptoms:
- Scoliosis
- Growth delay
- High palate
- Visual impairment
- Hypertension
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about PSEUDOXANTHOMA ELASTICUM
Too many results?
We can help you with your rare disease diagnosis.
Learn more
Other less relevant matches:
This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Failure to thrive
- Muscle weakness
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).
TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc
Related symptoms:
- Intellectual disability
- Seizures
- Neoplasm
- Pain
- Hypertension
SOURCES:
OMIM
MENDELIAN
More info about TUBEROUS SCLEROSIS 1; TSC1
Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).
INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Scoliosis
SOURCES:
ORPHANET
MENDELIAN
More info about INCONTINENTIA PIGMENTI
Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.
SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid
Related symptoms:
- Seizures
- Pain
- Cataract
- Anemia
- Visual impairment
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about SARCOIDOSIS
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease
Related symptoms:
- Seizures
- Short stature
- Hearing impairment
- Sensorineural hearing impairment
- Pain
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about FABRY DISEASE
Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.
JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about JACOBSEN SYNDROME
Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei
Related symptoms:
- Scoliosis
- Growth delay
- Failure to thrive
- Muscle weakness
- Ptosis
SOURCES:
OMIM
MENDELIAN
More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1
Top 5 symptoms//phenotypes associated to Congestive heart failure and Skin rash
Symptoms // Phenotype |
% cases |
Arrhythmia |
Common - Between 50% and 80% cases
|
Seizures |
Common - Between 50% and 80% cases
|
Subcutaneous nodule |
Uncommon - Between 30% and 50% cases
|
Lymphadenopathy |
Uncommon - Between 30% and 50% cases
|
Elevated erythrocyte sedimentation rate |
Uncommon - Between 30% and 50% cases
|
Accelerate your rare disease diagnosis with us
Learn more
Other less frequent symptoms
Patients with Congestive heart failure and Skin rash. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Hypothyroidism
Edema
Fever
Intellectual disability
Dilatation
Hepatomegaly
Erythema
Scoliosis
Arthritis
Cataract
Short stature
Headache
Pain
Renal insufficiency
Arthralgia
Intellectual disability, mild
Hyperhidrosis
Chest pain
Cough
Dyspnea
Attention deficit hyperactivity disorder
Cardiomyopathy
Failure to thrive
Hypertension
Visual impairment
Growth delay
Coronary artery atherosclerosis
Myocardial infarction
Anemia
Mitral regurgitation
Tubulointerstitial nephritis
Recurrent infections
Thrombocytopenia
Interstitial pulmonary abnormality
Ischemic stroke
Muscle weakness
Behavioral abnormality
Scarring
Skeletal muscle atrophy
Splenomegaly
Sudden cardiac death
Telangiectasia of the skin
Thick lower lip vermilion
Papule
Stroke
Increased antibody level in blood
Cardiomegaly
Sensorineural hearing impairment
Clubbing of fingers
Ptosis
Fatigue
Erythema nodosum
Rare Symptoms - Less than 30% cases
Osteopenia
Immunodeficiency
Abnormal mitral valve morphology
Hyperpigmentation of the skin
Camptodactyly of finger
Abnormality of the liver
Tricuspid regurgitation
Hemiplegia/hemiparesis
Elevated hepatic transaminase
Hepatosplenomegaly
Hypermelanotic macule
Retinal hemorrhage
Chorioretinal atrophy
Hyperkeratotic papule
Mitral stenosis
Flexion contracture
Peripheral arterial stenosis
Abnormal endocardium morphology
Angina pectoris
Abnormal thrombocyte morphology
Eczema
Restrictive cardiomyopathy
Respiratory distress
Pneumothorax
Hydrocephalus
Ventricular tachycardia
Uveitis
Peripheral neuropathy
Proximal muscle weakness
Syncope
Pancytopenia
Palpitations
Abnormal lung morphology
Anorexia
Diabetes insipidus
Osteolysis
Emphysema
Wheezing
Abnormality of the gastrointestinal tract
Heart murmur
Hearing impairment
Optic atrophy
Constipation
Tachycardia
Myalgia
Eosinophilia
Corneal opacity
Vomiting
Tachypnea
Glaucoma
Carcinoma
Intellectual disability, moderate
Abnormality of the kidney
Abnormality of the cerebral white matter
Nausea
Retinal detachment
Hypopigmentation of the skin
Blue sclerae
Finger syndactyly
Chylothorax
Global developmental delay
Strabismus
Muscular hypotonia
Spasticity
Cognitive impairment
Microphthalmia
Alopecia
Hyperkeratosis
Nephrocalcinosis
Immune dysregulation
Mitral valve prolapse
Recurrent pharyngitis
Lipodystrophy
Prominent nose
Small for gestational age
Hematuria
Nausea and vomiting
Abnormality of cardiovascular system morphology
Blindness
Conjunctivitis
Intrauterine growth retardation
Abnormal myocardium morphology
Macroglossia
Irritability
Aortic root aneurysm
Proteinuria
Leukocytosis
Decreased liver function
Pruritus
Abnormality of skin pigmentation
Abdominal pain
Cerebral calcification
Microcytic anemia
Respiratory insufficiency
Macrotia
Diarrhea
Abnormality of the cardiovascular system
Abnormal heart valve morphology
Bruising susceptibility
Postural instability
High-frequency hearing impairment
Abnormality of the renal tubule
Abnormality of femur morphology
Supraventricular tachycardia
Heat intolerance
Abnormal thrombosis
Myocardial fibrosis
Tubulointerstitial fibrosis
Congenital thrombocytopenia
Abnormality of the nose
Reduced ejection fraction
Asymmetric septal hypertrophy
Sinus bradycardia
Chronic pain
Abnormal renal physiology
Miosis
Chronic fatigue
Abnormal aortic valve morphology
Gastrointestinal dysmotility
Chronic obstructive pulmonary disease
Abnormal cornea morphology
Periorbital fullness
Achalasia
T-wave inversion
Abnormality of cardiovascular system physiology
Dysesthesia
Internal hemorrhage
Decreased lacrimation
Angiokeratoma corporis diffusum
Shortened QT interval
Hyposthenuria
Impaired temperature sensation
Obstructive lung disease
Angiokeratoma
Reduced sperm motility
Increased blood urea nitrogen
Giant platelets
Toe clinodactyly
Abnormality of the anus
Annular pancreas
Distal renal tubular acidosis
Arteria lusoria
Supraventricular arrhythmia
Vascular skin abnormality
Conjunctival telangiectasia
Microalbuminuria
Primary hypothyroidism
Biventricular hypertrophy
Megakaryocyte dysplasia
Decreased female libido
Retinal vascular tortuosity
Vascular tortuosity
Corneal crystals
Limb pain
Abnormality of temperature regulation
Nephrogenic diabetes insipidus
Bilateral camptodactyly
Decreased glomerular filtration rate
Large earlobe
Progressive muscle weakness
Abnormality of the curvature of the vertebral column
Aminoaciduria
Lymphedema
Bradycardia
Fasciculations
Abnormal autonomic nervous system physiology
Spontaneous abortion
Exercise intolerance
Purpura
Left ventricular hypertrophy
Hyperlipidemia
Aortic regurgitation
Abnormal intestine morphology
Progressive hearing impairment
Corneal dystrophy
Reduced bone mineral density
Hypohidrosis
Atrial fibrillation
Tinnitus
Thick vermilion border
Paresthesia
Vertigo
Stage 5 chronic kidney disease
Bulbous nose
Thick eyebrow
Gastrointestinal inflammation
Nephropathy
Ventricular hypertrophy
Pyelonephritis
Severe failure to thrive
Muscle cramps
Abdominal distention
Urinary incontinence
Hypotension
Nephrotic syndrome
Ventricular arrhythmia
Easy fatigability
Myopathy
Transient ischemic attack
Glycosuria
Renal tubular acidosis
Abnormality of lipid metabolism
Psoriasiform dermatitis
Abnormal EKG
Xerostomia
Renal tubular dysfunction
Celiac disease
Edema of the lower limbs
Elevated serum creatinine
Coronary artery stenosis
Tubular atrophy
Dilated cardiomyopathy
Oligospermia
Elevated serum creatine phosphokinase
Glomerulopathy
Orthostatic hypotension
Atrioventricular block
Personality changes
Chronic kidney disease
Prominent supraorbital ridges
Abnormality of the hand
Hemiplegia
Glomerulosclerosis
Polydipsia
Progressive proximal muscle weakness
Progressive sensorineural hearing impairment
Clubbing
Impaired vibratory sensation
Polyuria
Anhidrosis
Loss of consciousness
Bundle branch block
Impotence
Shortened PR interval
Tortuosity of conjunctival vessels
Concentric hypertrophic cardiomyopathy
Leukemia
Camptodactyly
Feeding difficulties in infancy
Postnatal growth retardation
Craniosynostosis
Coloboma
Abnormal cardiac septum morphology
Neurological speech impairment
Telecanthus
Hip dislocation
Flat occiput
Dolichocephaly
Toe syndactyly
Narrow chest
Facial asymmetry
Low-set, posteriorly rotated ears
Aplasia/Hypoplasia of the eyebrow
Smooth philtrum
Double outlet right ventricle
Thin upper lip vermilion
Hypoglycemia
Chronic constipation
Retinal dysplasia
Diastasis recti
Missing ribs
Hydronephrosis
Hypoplastic left heart
Abnormal eyelash morphology
Bipolar affective disorder
Transposition of the great arteries
Natal tooth
Slender finger
Partial agenesis of the corpus callosum
Atrioventricular canal defect
Talipes
Anal atresia
Pes planus
Pyloric stenosis
Sinusitis
Short toe
Leukodystrophy
Aortic valve stenosis
Spina bifida
Hand polydactyly
Bone marrow hypocellularity
Amblyopia
Horseshoe kidney
Multicystic kidney dysplasia
Holoprosencephaly
Azoospermia
Abnormal palate morphology
Infantile muscular hypotonia
Schizophrenia
Short thumb
Pachygyria
Iris coloboma
Growth hormone deficiency
Single transverse palmar crease
Microcornea
Premature birth
Intestinal malrotation
Decreased antibody level in blood
Webbed neck
Otitis media
Abnormal form of the vertebral bodies
Microdontia
Hammertoe
Dehydration
Chorioretinal coloboma
Ectropion
Coarctation of aorta
Trigonocephaly
Eyelid coloboma
Retrognathia
Mucosal telangiectasiae
Low-set ears
Generalized hypotonia
Microcephaly
Hypertelorism
Micrognathia
Abnormal facial shape
Cryptorchidism
Feeding difficulties
Abnormal glomerular filtration rate
Depressed nasal bridge
Central hypothyroidism
Epicanthus
Brachydactyly
Wide nasal bridge
Macrocephaly
Downslanted palpebral fissures
Cornea verticillata
Abnormality of the common coagulation pathway
Ventricular septal defect
Left ventricular septal hypertrophy
Unexplained fevers
ST segment depression
Functional abnormality of the gastrointestinal tract
Impaired renal concentrating ability
Abnormality of glycosphingolipid metabolism
Abnormality of the forehead
Tenesmus
Increased glomerular filtration rate
Macular hypoplasia
Heavy proteinuria
Clitoral hypoplasia
Acroparesthesia
Abnormal common carotid artery morphology
Abnormal ST segment
Increased carotid artery intimal medial thickness
Frontal bossing
Talipes equinovarus
High forehead
Abnormal heart morphology
Cerebral atrophy
Hernia
Hypospadias
Pectus excavatum
Clinodactyly
Patent ductus arteriosus
Malabsorption
Syndactyly
Inguinal hernia
Clinodactyly of the 5th finger
Agenesis of corpus callosum
Recurrent respiratory infections
Prominent forehead
Osteoporosis
Hypogonadism
Duodenal atresia
Ectopic anus
Ventriculomegaly
Atrial septal defect
Anteverted nares
Short neck
U-Shaped upper lip vermilion
Urethral stenosis
Long hallux
Abnormality of the head
Nasolacrimal duct obstruction
Broad hallux phalanx
Broad columella
Abnormality of the dentition
Short nose
Labial hypoplasia
Long philtrum
Aplasia/Hypoplasia of the earlobes
Nuclear cataract
Delayed puberty
Bronchiectasis
Prominent nasal bridge
Peau d'orange
Subcutaneous calcification
Arterial calcification
Localized skin lesion
Generalized arterial calcification
Medial calcification of large arteries
Peripapillary chorioretinal atrophy
Subretinal fluid
Accelerated atherosclerosis
Erythematous papule
Premature occlusive vascular stenosis
Medial calcification of medium-sized arteries
Abnormal atrioventricular valve morphology
Medial calcification of small arteries
Babinski sign
Vascular calcification
Civatte bodies
Hypertriglyceridemia
Excessive wrinkled skin
Abnormality of the cerebral vasculature
Lack of skin elasticity
Redundant neck skin
Pulmonary edema
Arterial stenosis
Arteriosclerosis
Pulmonary insufficiency
Abnormality of connective tissue
Ectopic calcification
Choroidal neovascularization
Intermittent claudication
Angioid streaks of the fundus
Metamorphopsia
Renovascular hypertension
Inability to walk
Bone pain
Thickened nuchal skin fold
Brain atrophy
Autism
Autistic behavior
Sleep disturbance
Renal cyst
Gliosis
Nevus
Focal-onset seizure
Hyperactivity
Specific learning disability
Generalized-onset seizure
Heterotopia
Hypoplasia of dental enamel
Cafe-au-lait spot
CNS hypomyelination
Respiratory failure
Neoplasm
Lymphopenia
Myositis
Elbow flexion contracture
Growth abnormality
Glucose intolerance
Long fingers
Basal ganglia calcification
Rimmed vacuoles
Abnormally large globe
Adipose tissue loss
Generalized lipodystrophy
Flexion contracture of toe
Hypochromic anemia
Panniculitis
Episcleritis
Stiff skin
Finger swelling
Drusen
Abnormality of the mouth
Precocious puberty
Myocarditis
Cranial nerve paralysis
Hypoalbuminemia
Scaling skin
Hyponatremia
Pericarditis
Acute kidney injury
Allergy
Meningitis
Inflammatory abnormality of the eye
Elevated C-reactive protein level
Cheilitis
Synovitis
Ascending tubular aorta aneurysm
Cholecystitis
Vasculitis
Cholestasis
Glossitis
Right bundle branch block
Joint stiffness
Abnormal pyramidal sign
Arthrogryposis multiplex congenita
Arachnodactyly
Abnormality of the face
Hyperostosis
Lipoatrophy
Hepatitis
Episodic fever
Clubbing of toes
Abnormality of the Leydig cells
Jaundice
Respiratory tract infection
Migraine
Abnormal oral mucosa morphology
Arteritis
Severe intrauterine growth retardation
Intracranial hemorrhage
Abnormality of the skin
Macular degeneration
Atherosclerosis
Cutis laxa
Hyperextensible skin
Redundant skin
Abnormality of the thorax
Joint hyperflexibility
Acne
Cutis marmorata
Abnormal retinal morphology
Multiple lipomas
Striae distensae
Severe vision loss
Gastrointestinal hemorrhage
Retinopathy
Abnormal pericardium morphology
Pyuria
Conjunctival hyperemia
CSF pleocytosis
Cervical lymphadenopathy
Coronary artery aneurysm
Abnormality of nail color
Arthralgia/arthritis
Abnormal emotion/affect behavior
Reduced visual acuity
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
Strawberry tongue
Aseptic leukocyturia
Abnormal gallbladder morphology
High palate
Myopia
Visual loss
Polycystic kidney dysplasia
Aortic aneurysm
Developmental regression
Macular edema
Optic neuropathy
Joint swelling
Heart block
Increased CSF protein
Hypothermia
Upper airway obstruction
Bone cyst
Keratoconjunctivitis sicca
Skin nodule
Night sweats
Anterior synechiae of the anterior chamber
Abnormality of the pleura
Vitreous hemorrhage
Cystoid macular edema
Hemoptysis
Hyperuricemia
Generalized lymphadenopathy
Hypercalcemia
Facial palsy
Hepatic failure
Hemolytic anemia
Nephrolithiasis
Leukopenia
Hypercalciuria
Portal hypertension
Hyperthyroidism
Pleural effusion
Inflammation of the large intestine
Epiphora
Pulmonary fibrosis
Blurred vision
Abnormality of the musculature
Abnormality of the cerebrospinal fluid
Skin plaque
Weight loss
Midface retrusion
Abnormality of the nasal mucosa
Maculopapular exanthema
Enlarged lacrimal glands
Vitreous snowballs
Pulmonary granulomatosis
Abnormal trabecular meshwork morphology
Depressivity
Abnormal cardiac ventricular function
Posteriorly rotated ears
Mandibular prognathia
Coarse facial features
Anxiety
Abnormality of the nervous system
Hypertrophic cardiomyopathy
Increased T cell count
Parotitis
Abnormality of the lymph nodes
Abnormal conjunctiva morphology
Abnormality of the adrenal glands
Chorioretinitis
Dacryocystitis
Anterior uveitis
Abnormal salivary gland morphology
Iridocyclitis
Vitreous floaters
Abnormal liver parenchyma morphology
Vitritis
Abnormal reproductive system morphology
Abnormality of skin morphology
Posterior vitreous detachment
Enlargement of parotid gland
Abnormality of T cell physiology
Non-caseating epithelioid cell granulomatosis
Photophobia
Retinal vascular proliferation
Nephroblastoma
Dental enamel pits
Premature chromatid separation
Renal angiomyolipoma
Angiofibromas
Optic nerve glioma
Subependymal nodules
Hypomelanotic macule
Ungual fibroma
Shagreen patch
Cardiac rhabdomyoma
Cortical tubers
Chordoma
Pulmonary lymphangiomyomatosis
Connective tissue nevi
Rhabdomyoma
Ependymoma
Flank pain
Achromatic retinal patches
Generalized hypopigmentation
Infantile spasms
Hamartoma
Renal cell carcinoma
Hyperventilation
Skin tags
Abnormality of the respiratory system
Renal neoplasm
Adenoma sebaceum
White hair
Wolff-Parkinson-White syndrome
Brain neoplasm
Astrocytoma
Gingival fibromatosis
Fibroma
Subungual fibromas
Projection of scalp hair onto lateral cheek
Broad nail
Cerebral ischemia
Irregular hyperpigmentation
Hearing abnormality
Abnormal toenail morphology
Dystrophic toenail
Hypoplastic fingernail
Verrucae
Deviation of finger
Supernumerary nipple
Supernumerary ribs
Asymmetric growth
Absent hand
Abnormal chorioretinal morphology
Ridged fingernail
Abnormal hand morphology
Abnormality of immune system physiology
Keratitis
Gait disturbance
Pulmonary arterial hypertension
Cerebral cortical atrophy
Umbilical hernia
Oral cleft
Delayed eruption of teeth
Hypodontia
Abnormal blistering of the skin
Skin ulcer
Abnormality of dental morphology
Abnormality of the hair
Abnormality of the nail
Abnormality of dental enamel
Abnormality of the fingernails
Spina bifida occulta
Hypopigmented skin patches
Encephalitis
Pharyngitis
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Frontal bossing and Triangular face, related diseases and genetic alterations
Autoimmunity and Muscle cramps, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
Learn more